Canonical Allele Identifier: CA2710992759

Gene: DTNBP1

Linked Data

• dbSNP Id: rs2113532327

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15572778C>A , CM000668.2:g.15572778C>A	GRCh38
NC_000006.11:g.15573009C>A , CM000668.1:g.15573009C>A	GRCh37
NC_000006.10:g.15680988C>A	NCBI36
NG_009309.1:g.95263G>T , LRG_588:g.95263G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000344537.10:c.511+20281G>T MANE Select	ENSP00000341680.6:n.511+20281G>T
ENST00000338950.9:c.511+20281G>T	ENSP00000344718.5:n.511+20281G>T
ENST00000344537.9:c.511+20281G>T	ENSP00000341680.5:n.511+20281G>T
ENST00000355917.7:c.460+20281G>T	ENSP00000348183.4:n.460+20281G>T
ENST00000462989.6:c.43+12941G>T	ENSP00000427239.1:n.43+12941G>T
ENST00000506844.1:c.*509+20281G>T	ENSP00000424202.1:n.*509+20281G>T
ENST00000510395.5:c.*421+20281G>T	ENSP00000424685.1:n.*421+20281G>T
ENST00000511762.2:c.406+20281G>T	ENSP00000427473.2:n.406+20281G>T
ENST00000513680.5:c.*509+20281G>T	ENSP00000424357.1:n.*509+20281G>T
ENST00000515875.5:c.460+20281G>T	ENSP00000425495.1:n.460+20281G>T
ENST00000622898.4:c.406+20281G>T	ENSP00000481997.1:n.406+20281G>T
NM_001271667.1:c.268+20281G>T	NP_001258596.1:n.268+20281G>T
NM_001271668.1:c.460+20281G>T	NP_001258597.1:n.460+20281G>T
NM_001271669.1:c.406+20281G>T	NP_001258598.1:n.406+20281G>T
NM_032122.4:c.511+20281G>T , LRG_588t1:c.511+20281G>T	NP_115498.2:n.511+20281G>T
NM_183040.2:c.511+20281G>T , LRG_588t2:c.511+20281G>T	NP_898861.1:n.511+20281G>T
NR_036448.1:n.839+20281G>T
XM_005249447.3:c.472+20281G>T	XP_005249504.1:n.472+20281G>T
XM_011514936.1:c.421+20281G>T	XP_011513238.1:n.421+20281G>T
XM_011514937.1:c.43+12941G>T	XP_011513239.1:n.43+12941G>T
XM_005249447.4:c.472+20281G>T	XP_005249504.1:n.472+20281G>T
XM_011514936.3:c.421+20281G>T	XP_011513238.1:n.421+20281G>T
XM_011514937.2:c.43+12941G>T	XP_011513239.1:n.43+12941G>T
NM_032122.5:c.511+20281G>T MANE Select	NP_115498.2:n.511+20281G>T
NR_036448.2:n.809+20281G>T
NM_001271667.2:c.268+20281G>T	NP_001258596.1:n.268+20281G>T
NM_001271668.2:c.460+20281G>T	NP_001258597.1:n.460+20281G>T
NM_001271669.2:c.406+20281G>T	NP_001258598.1:n.406+20281G>T
NR_036448.3:n.809+20281G>T